ArticleNeurogenetics2012
Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations.
Article in Neurogenetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 21 citations in OpenAlex.
- Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.Nature communications · 2026Article
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- Cellular Functional Analyses ofHuman mutation · 2026Article
- Decoding the mechanisms of cooperative DNA binding by the Paired-like homeodomain family.bioRxiv : the preprint server for biology · 2025Article
- Dissecting Gene Regulatory Networks Governing Human Cortical Cell Fate.bioRxiv : the preprint server for biology · 2025Article
- Combinatorial transcription factor binding encodes cis-regulatory wiring of mouse forebrain GABAergic neurogenesis.Developmental cell · 2025Article
- DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.Nature communications · 2024Article
- X-Linked Epilepsies: A Narrative Review.International journal of molecular sciences · 2024Review
- Genetic Regulation of Vertebrate Forebrain Development by Homeobox Genes.Frontiers in neuroscience · 2022Review
- Fetal and neonatal MRI features ofQuantitative imaging in medicine and surgery · 2019Article
- Mutations of ARX and non-syndromic intellectual disability in Chinese population.Genes & genomics · 2019Article
- The Role of ARX in Human Pancreatic Endocrine Specification.PloS one · 2015Article
- Arx together with FoxA2, regulates Shh floor plate expression.Developmental biology · 2014Article
- Genetics, molecular biology, and phenotypes of x-linked epilepsy.Molecular neurobiology · 2014Review
- Nuclear import of aristaless-related homeobox protein via its NLS1 regulates its transcriptional function.Molecular and cellular biochemistry · 2013Article
- Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms.Current opinion in neurobiology · 2012Review
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in the Aristaless-related homeobox gene (ARX) are associated with a wide variety of neurologic disorders including lissencephaly, hydrocephaly, West syndrome, Partington syndrome, and X-linked intellectual disability with or without epilepsy. A genotype-phenotype correlation exists for ARX mutations; however, the molecular basis for this association has not been investigated. To begin understanding the molecular basis for ARX mutations, we tested the DNA binding sequence preference and transcriptional repression activity for Arx, deletion mutants and mutants associated with various neurologic disorders. We found DNA binding preferences of Arx are influenced by the amino acid sequences adjacent to the homeodomain. Mutations in the homeodomain show a loss of DNA binding activity, while the T333N and P353R homeodomain mutants still possess DNA binding activities, although less than the wild type. Transcription repression activity, the primary function of ARX, is reduced in all mutants except the L343Q, which has no DNA binding activity and does not functionally repress Arx targets. These data indicate that mutations in the homeodomain result in not only a loss of DNA binding activity but also loss of transcriptional repression activity. Our results provide novel insights into the pathogenesis of ARX-related disorders and possible directions to pursue potential therapeutic interventions.
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